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The mechanism of the majority of the dyslipidemia is multifactorial at the molecular level and remains elusive in more than 50% of the patients in many clinical conditions. Next generation sequencing, a booming strategy, improves the molecular diagnosis efficiency in both monogenic and polygenic dyslipidemia.
In order to decipher the mechanisms involved in the occurrence of dyslipidemia, in addition to the exploration of known candidate genes and Single Nucleotide Polymorphisms (SNP) involved in polygenic modulation, new genes involved in the regulation of lipoprotein metabolism or associated with lipids concentrations need to be sequenced in large groups of dyslipidemic patients.
The goal of this project is to gain new insight into genotype/phenotype correlation.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Dyslipidemia | Genotype/phenotype correlation in patients with dyslipidemia |
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| Measure | Description | Time Frame |
|---|---|---|
| Genetical exploration in dyslipidemic patients | Deoxyribonucleic Acid (DNA) sequencing will allow the study of rare gene variants and their frequency in known and new genes in patients with dyslipidemia. | 25 years |
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Inclusion Criteria:
Exclusion Criteria:
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Male or female patients with dyslipidemia
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Mathilde Di Filippo | Contact | 4 72 11 89 94 | 33 | mathilde.di-filippo@chu-lyon.fr |
| Oriane Marmontel | Contact | 4 72 12 97 08 | 33 | oriane.marmontel@chu-lyon.fr |
| Name | Affiliation | Role |
|---|---|---|
| Philippe Moulin, PhD | Hospices Civils de Lyon | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Laboratoire de Biologie Médicale Multi Sites, Centre de Biologie et de Pathologie Est, Département de biochimie et biologie moléculaire Grand Est | Recruiting | Bron | 69495 | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 36528340 | Derived | Vanhoye X, Bardel C, Rimbert A, Moulin P, Rollat-Farnier PA, Muntaner M, Marmontel O, Dumont S, Charriere S, Cornelis F, Ducluzeau PH, Fonteille A, Nobecourt E, Peretti N, Schillo F, Wargny M, Cariou B, Meirhaeghe A, Di Filippo M. A new 165-SNP low-density lipoprotein cholesterol polygenic risk score based on next generation sequencing outperforms previously published scores in routine diagnostics of familial hypercholesterolemia. Transl Res. 2023 May;255:119-127. doi: 10.1016/j.trsl.2022.12.002. Epub 2022 Dec 15. |
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| ID | Term |
|---|---|
| D050171 | Dyslipidemias |
| ID | Term |
|---|---|
| D052439 | Lipid Metabolism Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
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Deoxyribonucleic Acid (DNA) of patients will sequenced using Sanger and Illumina Next-Generation Sequencing (NGS) methodology combined with PapilLyon, the pipeline developed by the Hospices Civils de Lyon (HCL) bioinformatics team, which allows more than 350 genes potentially involved in plasma lipoprotein metabolism to be explored.
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